Canonical Allele Identifier: CA112940967

Gene: TERT

Linked Data

• dbSNP Id: rs34881188
• gnomAD v4: 5-1268481-A-AC
• MyVariant Identifiers: chr5:g.1268596_1268597insC (hg19) ; chr5:g.1268481_1268482insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.1268486dup , CM000667.2:g.1268486dup	GRCh38
NC_000005.9:g.1268601dup , CM000667.1:g.1268601dup	GRCh37
NC_000005.8:g.1321601dup	NCBI36
NG_009265.1:g.31566dup , LRG_343:g.31566dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000310581.10:c.2582+38dup MANE Select	ENSP00000309572.5:n.2582+38dup
ENST00000656021.1:c.*2128+38dup	ENSP00000499759.1:n.*2128+38dup
ENST00000310581.9:c.2582+38dup	ENSP00000309572.5:n.2582+38dup
ENST00000334602.10:c.2582+38dup	ENSP00000334346.6:n.2582+38dup
ENST00000460137.6:c.2364+38dup	ENSP00000425003.1:n.2364+38dup
ENST00000484238.6:n.1213+38dup
ENST00000508104.2:c.2400+38dup	ENSP00000426042.2:n.2400+38dup
NM_001193376.1:c.2582+38dup	NP_001180305.1:n.2582+38dup
NM_198253.2:c.2582+38dup , LRG_343t1:c.2582+38dup	NP_937983.2:n.2582+38dup
XM_011514104.1:c.1052+38dup	XP_011512406.1:n.1052+38dup
XM_011514105.1:c.938+38dup	XP_011512407.1:n.938+38dup
XM_011514106.1:c.938+38dup	XP_011512408.1:n.938+38dup
NR_149162.1:n.2458+38dup
NR_149163.1:n.2422+38dup
NM_001193376.2:c.2582+38dup	NP_001180305.1:n.2582+38dup
NM_198253.3:c.2582+38dup MANE Select	NP_937983.2:n.2582+38dup
NR_149162.2:n.2479+38dup
NR_149163.2:n.2443+38dup
NM_001193376.3:c.2582+38dup	NP_001180305.1:n.2582+38dup
NR_149162.3:n.2479+38dup
NR_149163.3:n.2443+38dup